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A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.

Authors: Habib, R  Amin-ud-Din, M  Ahmad, W 
Citation: Habib R, etal., Clin Dysmorphol. 2013 Apr;22(2):47-50. doi: 10.1097/MCD.0b013e32835c6c8c.
Pubmed: (View Article at PubMed) PMID:23238279
DOI: Full-text: DOI:10.1097/MCD.0b013e32835c6c8c

Brachydactyly type B1 (BDB1), an autosomal dominant condition characterized by terminal deficiency of the fingers and toes, results from mutations in the gene ROR2 encoding a receptor tyrosine kinase. In addition to BDB1, mutations in the gene ROR2 also cause a more severe form of skeletal dysplasia, autosomal recessive Robinow syndrome. The present study reports on a large Punjabi-speaking Pakistani family segregating autosomal dominant BDB1. In total, 34 individuals in this family showed features of BDB1. Sequence analysis of the gene ROR2 identified a previously reported nonsense mutation (c.2278C>T, p.Q760X) in all affected individuals of the family.


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RGD Object Information
RGD ID: 11537345
Created: 2016-09-30
Species: All species
Last Modified: 2016-09-30
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.